Abstract

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder
caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the
degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic
subtypes. The aim of this study was the detection of mutations in the IDUA gene from
12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate,
3 cases; mild, 1 case).

Patients and methods

In this study, the IDUA mutations in eight unrelated Tunisian families were performed
by amplifying and sequencing the IDUA exons and intron-exon jonctions.